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PRPS1L1 phosphoribosyl pyrophosphate synthetase 1 like 1 [ Homo sapiens (human) ]

Gene ID: 221823, updated on 5-Sep-2021

Summary

Official Symbol
PRPS1L1provided by HGNC
Official Full Name
phosphoribosyl pyrophosphate synthetase 1 like 1provided by HGNC
Primary source
HGNC:HGNC:9463
See related
Ensembl:ENSG00000229937 MIM:611566
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PRPS1; PRPS3; PRPSL; PRS-III
Summary
This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See PRPS1L1 in Genome Data Viewer
Location:
7p21.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (18026770..18027846, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (18066393..18067469, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene sorting nexin 13 Neighboring gene MRM3 pseudogene 2 Neighboring gene microRNA 1302-6 Neighboring gene GATA motif-containing MPRA enhancer 275 Neighboring gene histone deacetylase 9

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ribose phosphate diphosphokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ribose phosphate diphosphokinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ribose phosphate diphosphokinase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in 5-phosphoribose 1-diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in nucleoside metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in purine nucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ribonucleoside monophosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of ribose phosphate diphosphokinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ribose-phosphate pyrophosphokinase 3
Names
PRPS1-like 1
phosphoribosyl pyrophosphate synthase 1-like 1
phosphoribosyl pyrophosphate synthase III
phosphoribosylpyrophosphate synthetase subunit III
ribose-phosphate diphosphokinase catalytic chain III
ribose-phosphate pyrophosphokinase III
NP_787082.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_175886.3NP_787082.1  ribose-phosphate pyrophosphokinase 3

    See identical proteins and their annotated locations for NP_787082.1

    Status: REVIEWED

    Source sequence(s)
    AC080080, M57423
    Consensus CDS
    CCDS47552.1
    UniProtKB/Swiss-Prot
    P21108
    Related
    ENSP00000424595.3, ENST00000506618.5
    Conserved Domains (3) summary
    COG0462
    Location:1313
    PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]
    pfam13793
    Location:4120
    Pribosyltran_N; N-terminal domain of ribose phosphate pyrophosphokinase
    cl00309
    Location:161313
    PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    18026770..18027846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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